Skip to main content
Molecular and Cellular Pediatrics

Table 2 WES results of the subject’s parents

From: Mutations of uncertain significance in heterozygous variants as a possible cause of severe short stature: a case report

 

Gene transcript (RefSeq)

Variant location

Variant

Zygosity

Type

Father

GHR

NM_001242399.2

Exon 6

c.556C>T

p.R186C

Het

Missense

Mother

AGBL1

NM_152336.2

Exon 22

c.2969G>C

p.C990S

Het

Missense

Back to article page